Lower frequency of NPM1 and FLT3-ITD mutations in a South African adult de novo AML cohort.

INTRODUCTION: Acute myeloid leukemia (AML) is a heterogeneous clonal disorder of hemopoietic progenitor cells diagnosed in individuals of any age, but with a median age of 67 years at presentation in adults. Assessment of the mutation status of nucleophosmin protein-1 (NPM1) and FMS-like tyrosine kinase 3 internal tandem duplication (FLT3-ITD) is essential for the prognosis, and treatment of AML. METHODS: A total of 160 de novo AML cases, both cytogenetically normal and abnormal, were analyzed for the presence of NPM1 and FLT3-ITD mutations, and the results assessed in conjunction with epidemiological, clinical, and laboratory findings. RESULTS: Nucleophosmin protein-1 mutations were found in 7.5%, while FLT3-ITD was present in 12% of these cases. Both of these were lower than expected. The median age at diagnosis of AML was 41 years, and for the FLT3-ITD only cases, median age was 33 years; these ages were younger than expected. CONCLUSION: The lower reported frequencies and younger median age at diagnosis of AML and these specific mutations may be contributed to by a number of factors including effects of race on age of presentation, inclusion of patients diagnosed with de novo AML only, and a generally younger median age of the South African population.

Challenges in lymphoma diagnosis in HIV positive patients in the South African setting.

An increase in high grade B-cell lymphomas has been noted in HIV infection. Sub-Saharan Africa is the epicentre of the epidemic and in Gauteng, South Africa >90% of patients with high grade lymphoma tested positive for HIV infection. The diagnosis of lymphoma may be challenging in HIV because of reactive conditions which mimic lymphomas, the atypical clinical presentation and the atypical histological findings. The WHO classification divides lymphomas into discrete categories. Despite this, tumours in HIV positive patients commonly show atypical morphological, immunophenotypic, molecular and cytogenetic features, making exact classification difficult. This has lead to an increase in the diagnosis of the highly aggressive B-cell lymphoma, unclassifiable with features intermediate between DLBCL and BL. It appears likely that HIV-associated lymphomas represent a continuum of disease.